ClinVar Miner

Submissions for variant NC_000009.12:g.(?_91220785)_(91221012_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001032032 SCV001195339 pathogenic 3-methylglutaconic aciduria type 1 2022-02-06 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 7 of the AUH gene. This deletion is out-of-frame, and is expected to create a premature termination codon and result in an absent or disrupted protein product. Loss-of-function variants in AUH are known to be pathogenic (PMID: 12655555, 20882351). This variant has not been reported in the literature in individuals affected with AUH-related conditions. For these reasons, this variant has been classified as Pathogenic.

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